Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 GeneticVariation disease BEFREE Contrarily, DNA methylation genes (DNMT3A, IDH1, IDH2 and TET2) were mutated most often in PV (0·5) and less frequently in ET (0·23) and PMF (0·20), but without reaching statistical significance. 27447873 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 GeneticVariation disease BEFREE As compared with patients in whom the TET2 mutation was acquired first (hereafter referred to as "TET2-first patients"), patients in whom the Janus kinase 2 (JAK2) mutation was acquired first ("JAK2-first patients") had a greater likelihood of presenting with polycythemia vera than with essential thrombocythemia, an increased risk of thrombosis, and an increased sensitivity of JAK2-mutant progenitors to ruxolitinib in vitro. 25671252 2015
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 Biomarker disease ORPHANET TET2 mutations in Ph-negative myeloproliferative neoplasms: identification of three novel mutations and relationship with clinical and laboratory findings. 23781511 2013
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 GeneticVariation disease BEFREE Clonality investigation including mutational status of MPL, TET2, and ASXL1 genes and human androgen receptor (HUMARA) assay was performed in 73 JAK2V617F-negative cases out of 186 subjects consecutively diagnosed with ET in a single institution, at diagnosis or during follow-up. 22706669 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 GeneticVariation disease BEFREE We investigated a group of pediatric patients diagnosed either with essential thrombocythemia (ET; N = 9) or polycythemia vera (PV; N = 4) according to WHO criteria (median age = 10 years; range 1.5-15 years) in whom direct sequencing was performed for the existence of genetic alterations in JAK2, MPL, TET2, ASXL1, CBL, IDH1, and IDH2. 22106054 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 PosttranslationalModification disease BEFREE In the primary marrow samples, methylation of TET2 occurred in two (5.9%) patients with essential thrombocythaemia (4.4% of all patients), both without JAK2 V617 mutation, but not in polycythaemia vera or primary myelofibrosis. 20671051 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 Biomarker disease ORPHANET TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. 19262601 2009
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.360 GeneticVariation disease BEFREE TET2 mutations were mainly observed (10 of 12) in patients with primary myelofibrosis or patients with polycythemia vera or essential thrombocythemia who secondarily evolved toward myelofibrosis or acute myeloid leukemia. 19564637 2009